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SLC11A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC11A2 gene

The SLC11A2 gene encodes the DMT1 protein, which is essential for transporting iron within cells and absorbing it from the diet.

Normal Function

The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). Four different versions (isoforms) of the DMT1 protein are produced from the SLC11A2 gene. The primary role of the DMT1 protein is to transport positively charged iron atoms (ions) within cells; however, the protein can transport some other metal ions as well.

In a section of the small intestine called the duodenum, the DMT1 protein is located within finger-like projections called microvilli. These projections absorb nutrients from food as it passes through the intestine and then release them into the bloodstream. In all other cells, including immature red blood cells called erythroblasts, DMT1 is located in the membrane of endosomes, which are specialized compartments that carry proteins and other molecules to their destinations within the cell.

Health Conditions Related to Genetic Changes

Hypochromic microcytic anemia with iron overload

At least seven mutations in the SLC11A2 gene have been found to cause hypochromic microcytic anemia with iron overload. This condition is characterized by a shortage of red blood cells (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). There is also progressive accumulation of iron in the liver.

Most SLC11A2 gene mutations that cause this condition lead to reduced production of the DMT1 protein, decreased protein function, or impaired ability of the protein to get to the correct location in cells. In erythroblasts, a shortage of DMT1 protein diminishes the amount of iron transported within cells, impairing the development of healthy red blood cells. In the duodenum, a shortage of DMT1 protein decreases iron absorption. Because the red blood cells cannot use the iron that is absorbed, it accumulates in the liver, eventually impairing liver function.

Other Names for This Gene

  • DCT1
  • divalent cation transporter 1
  • DMT-1
  • DMT1
  • natural resistance-associated macrophage protein 2
  • NRAMP 2
  • NRAMP2
  • solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
  • solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Frequently Asked Questions

Yes, hypochromic microcytic anemia with iron overload is an inherited condition caused by mutations in the SLC11A2 gene. It is typically inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the altered gene (one from each parent) to develop the condition. Parents who each carry one copy of the altered gene are usually unaffected but have a 25% chance with each pregnancy of having a child with the condition.
The progressive accumulation of iron, particularly in the liver, can lead to significant long-term health risks. Over time, excess iron can damage organs such as the liver (causing fibrosis or cirrhosis), heart (leading to cardiomyopathy), and endocrine glands (affecting hormone production), potentially causing serious health complications if not managed.
Management involves addressing both the anemia and the iron overload. Treatment for iron overload usually includes iron chelation therapy, which uses medications to remove excess iron from the body. Blood transfusions may be necessary to manage severe anemia, but these must be carefully balanced with the risk of increasing iron overload.
This condition is typically apparent at birth. Infants will show signs of anemia, meaning a shortage of red blood cells. The red blood cells produced are abnormally small (microcytic) and pale (hypochromic). This can lead to symptoms like fatigue, pallor, and poor feeding, though these may be subtle initially.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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